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Results: 1 to 20 of 127

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hereditary Hemorrhagic Telangiectasia

Impact Genetics Dynacare/LabCorp
Canada
53
  • D Deletion/duplication analysis
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus AI - RTP
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

ENG Gene Telangiectasia, hereditary hemorrhagic, of Rendu, Osler and Weber type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

HHT and Vascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
712
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebrovascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

High-Resolution Rapid Microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Tempus xT

Tempus AI - CHI
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

ENG - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hemorrhagic telangiectasia NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hereditary Hemorrhagic telangiectasia Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Hemorrhagic telangiectasia Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
35
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Telangiectasia, hereditary hemorrhagic, type 1, 187300, Autosomal dominant; HHT (Rendu - Osler - Weber Syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Telangiectasia, hereditary hemorrhagic, type 1, 187300, Autosomal dominant; HHT (Rendu - Osler - Weber Syndrome) (ENG gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Pulmonary Arterial Hypertension (PAH) Panel

PreventionGenetics, part of Exact Sciences
United States
1011
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 127

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.